X‐linked intellectual disability update 2017

G Neri, CE Schwartz, HA Lubs… - American journal of …, 2018 - Wiley Online Library
The X‐chromosome comprises only about 5% of the human genome but accounts for about
15% of the genes currently known to be associated with intellectual disability. The early …

Modelling autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) using mice and zebrafish

G Dougnon, H Matsui - International journal of molecular sciences, 2022 - mdpi.com
Autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD) are two
debilitating neurodevelopmental disorders. The former is associated with social impairments …

[PDF][PDF] Dissecting the causal mechanism of X-linked dystonia-parkinsonism by integrating genome and transcriptome assembly

T Aneichyk, WT Hendriks, R Yadav, D Shin, D Gao… - Cell, 2018 - cell.com
Summary X-linked Dystonia-Parkinsonism (XDP) is a Mendelian neurodegenerative
disease that is endemic to the Philippines and is associated with a founder haplotype. We …

Genetics of intellectual disability in consanguineous families

H Hu, K Kahrizi, L Musante, Z Fattahi, R Herwig… - Molecular …, 2019 - nature.com
Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual
disability (ID) in countries with frequent parental consanguinity, which account for about …

Update on the genetics of dystonia

K Lohmann, C Klein - Current neurology and neuroscience reports, 2017 - Springer
Mainly due to the advent of next-generation sequencing (NGS), the field of genetics of
dystonia has rapidly grown in recent years, which led to the discovery of a number of novel …

Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism

BH Laabs, C Klein, J Pozojevic, A Domingo… - Nature …, 2021 - nature.com
X-linked dystonia-parkinsonism is a neurodegenerative disorder caused by a founder
retrotransposon insertion, in which a polymorphic hexanucleotide repeat accounts for~ 50 …

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

F Martínez, A Caro-Llopis, M Roselló, S Oltra… - Journal of medical …, 2017 - jmg.bmj.com
Background Intellectual disability is a very complex condition where more than 600 genes
have been reported. Due to this extraordinary heterogeneity, a large proportion of patients …

Zebrafish as a model of neurodevelopmental disorders

MS De Abreu, R Genario, ACVV Giacomini, KA Demin… - Neuroscience, 2020 - Elsevier
Neurodevelopmental disorders (NDDs) caused by aberrant brain growth and development
are life-long, debilitating illnesses that markedly impair the quality of life. Animal models are …

Recent advances on small-molecule bromodomain-containing histone acetyltransferase inhibitors

M Liu, K Zhang, Q Li, H Pang, Z Pan… - Journal of Medicinal …, 2023 - ACS Publications
In recent years, substantial research has been conducted on molecular mechanisms and
inhibitors targeting bromodomains (BRDs) and extra-terminal (BET) family proteins. On this …

[HTML][HTML] Function over form: modeling groups of inherited neurological conditions in zebrafish

RA Kozol, AJ Abrams, DM James, E Buglo… - Frontiers in molecular …, 2016 - frontiersin.org
Zebrafish are a unique cell to behavior model for studying the basic biology of human
inherited neurological conditions. Conserved vertebrate genetics and optical transparency …